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Titolo:
JUVENILE KEARNS-SAYRE SYNDROME INITIALLY MISDIAGNOSED AS A PSYCHOSOMATIC DISORDER
Autore:
NORBY S; LESTIENNE P; NELSON I; NIELSEN IM; SCHMALBRUCH H; SJO O; WARBURG M;
Indirizzi:
UNIV COPENHAGEN,INST FORENS GENET,FREDERIK V VEJ 11 DK-2100 COPENHAGEN DENMARK CHRU,INSERM,U298 ANGERS FRANCE SUNDBY HOSP,DEPT PAEDIAT COPENHAGEN DENMARK UNIV COPENHAGEN,INST NEUROPHYSIOL COPENHAGEN DENMARK
Titolo Testata:
Journal of Medical Genetics
fascicolo: 1, volume: 31, anno: 1994,
pagine: 45 - 50
SICI:
0022-2593(1994)31:1<45:JKSIMA>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL-DNA DELETIONS; HEREDITARY OPTIC NEUROPATHY; SIDEROBLASTIC ANEMIA; TISSUE DISTRIBUTION; MYOPATHIES; OPHTHALMOPLEGIA; COMPLEMENTATION; DYSFUNCTION; MECHANISMS; SEQUENCES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
S. Norby et al., "JUVENILE KEARNS-SAYRE SYNDROME INITIALLY MISDIAGNOSED AS A PSYCHOSOMATIC DISORDER", Journal of Medical Genetics, 31(1), 1994, pp. 45-50

Abstract

We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone celldysfunction with atypical retinal pigmentation, complicated by cerebellar ataxia, partial cardiac conduction block, and diabetes mellitus. In infancy she had a severe crisis of bone marrow depression, and as achild she suffered from hypersensitivity to light, increasing fatigue, and vertigo, signs that were initially thought to be psychosomatic. Histological examination showed mitochondrial myopathy, and subsequentmitochondrial DNA (mtDNA) analysis showed a deletion of approximately5500 base pairs in 35 to 40% of her muscle mtDNA. We therefore conclude that this patient has developed the Kearns-Sayre syndrome after a Pearson syndrome-like crisis in her first year of life.

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Documento generato il 01/04/20 alle ore 23:59:49